------------------------------------------------------------------------------ SWISS-PROT Protein Sequence Data Bank. Release 36.0, July 1998 ------------------------------------------------------------------------------ Index of human proteins with sequence variants ------------------------------------------------------------------------------ Amos Bairoch Email: bairoch@medecine.unige.ch Swiss Institute of Bioinformatics and University of Geneva Switzerland ------------------------------------------------------------------------------ Document name: HUMPVAR.TXT ------------------------------------------------------------------------------ This file lists SWISS-PROT human protein sequence entries that contain information on at least one sequence variant (polymorphism or disease-linked mutation). It should be noted that: a) SWISS-PROT does not store information on nonsense or frameshift mutations as these are not "informative" at the protein level. b) Variations due to different sequence reports are considered in SWISS-PROT as "conflicts" and are not considered here. It is only when a conflict is proved to be a polymorphism that it is noted as a "variant". c) Variants produced by alternative splicing are also not considered here. Total number of human sequence variants currently stored in SWISS-PROT: 6512 WWW gateways to resources on human mutations and polymorphisms; EBI : http://croma.ebi.ac.uk/mutations/ HGMD: http://www.uwcm.ac.uk/uwcm/mg/hgmd0.html HUGO: http://ariel.ucs.unimelb.edu.au/~cotton/mut_database.htm For each entry listed , we provide the following information: 1) Primary gene name (generally the official HUGO approved gene symbol); 2) First gene synonym (if any); 3) SWISS-PROT entry name; 4) SWISS-PROT primary accession number; 5) First MIM entry cross-referenced (if any); 6) Number of variants stored in the entry; 7) Disease flag; its presence indicates that at least one of the variant is linked to a disease; 8) 3D flag; its presence indicates that there is at least one 3D-structure entry in PDB for that protein; 9) Xdb flag; its presence indicates that there is at least one cross- reference to a specific Web resource for that protein in that entry. --------- --------- ------------------- ------ -------- -------------- Main Synonym SWISS-PROT MIM Nb of Flags gene name gene name AC Entry name code variants Disease 3D Xdb --------- --------- ------------------- ------ -------- -------------- A2M A2MG_HUMAN (P01023) 103950 VAR= 3 AAC2 NAT2 ARY2_HUMAN (P11245) 243400 VAR= 5 AACT AACT_HUMAN (P01011) 107280 VAR= 5 Disease 3D ABO BGAT_HUMAN (P16442) 110300 VAR= 7 ABP1 DAO1 ABP_HUMAN (P19801) 104610 VAR= 1 ACADL ACDL_HUMAN (P28330) 201460 VAR= 2 Disease ACADM ACDM_HUMAN (P11310) 201450 VAR= 8 Disease 3D ACADS ACDS_HUMAN (P16219) 201470 VAR= 2 Disease ACAT1 ACAT THIL_HUMAN (P24752) 203750 VAR= 10 Disease ACHE ACES_HUMAN (P22303) 100740 VAR= 1 3D ACP1 PA1F_HUMAN (P24666) 171500 VAR= 1 ACP1 PA1S_HUMAN (P24667) 171500 VAR= 1 ACVRL1 ACVRLK1 KIR3_HUMAN (P37023) 601284 VAR= 8 Disease ADA ADA_HUMAN (P00813) 102700 VAR= 27 Disease ADH2 ADHB_HUMAN (P00325) 103720 VAR= 2 3D ADH3 ADHG_HUMAN (P00326) 103730 VAR= 2 ADORA2A ADORA2 AA2A_HUMAN (P29274) 102776 VAR= 1 3D ADRB2 ADRB2R B2AR_HUMAN (P07550) 109690 VAR= 4 ADRB3 ADRB3R B3AR_HUMAN (P13945) 109691 VAR= 1 ADSL PUR8_HUMAN (P30566) 103050 VAR= 1 Disease AGA ASPG_HUMAN (P20933) 208400 VAR= 7 Disease 3D AGT ANGT_HUMAN (P01019) 106150 VAR= 5 Disease AGXT AGT1 SPYA_HUMAN (P21549) 259900 VAR= 7 Disease AHCY SAHH SAHH_HUMAN (P23526) 180960 VAR= 1 AIRE APECED AIRE_HUMAN (O43918) 240300 VAR= 1 Disease Xdb AK1 KAD1_HUMAN (P00568) 103000 VAR= 1 Disease ALAD HEM2_HUMAN (P13716) 125270 VAR= 5 Disease ALAS2 ALASE HEM0_HUMAN (P22557) 301300 VAR= 2 Disease ALB ALBU_HUMAN (P02768) 103600 VAR= 49 Disease 3D ALCAM C166_HUMAN (Q13740) 601662 VAR= 2 3D Xdb ALD ALD_HUMAN (P33897) 300100 VAR= 67 Disease ALDH10 FALDH DHA4_HUMAN (P51648) 270200 VAR= 3 Disease ALDH2 ALDM DHAM_HUMAN (P05091) 100650 VAR= 1 ALDH5 ALDHX DHA5_HUMAN (P30837) 100670 VAR= 2 ALDOA ALDA ALFA_HUMAN (P04075) 103850 VAR= 1 Disease 3D ALDOB ALDB ALFB_HUMAN (P05062) 229600 VAR= 8 Disease ALOX12 LOG12 LOX2_HUMAN (P18054) 152391 VAR= 1 ALPL PPBT_HUMAN (P05186) 146300 VAR= 16 Disease AMELX AMGX AMEX_HUMAN (Q99217) 301200 VAR= 1 Disease AMH MIF MIS_HUMAN (P03971) 600957 VAR= 10 Disease ANK1 ANK ANK1_HUMAN (P16157) 182900 VAR= 9 Disease ANPEP PEPN AMPN_HUMAN (P15144) 151530 VAR= 2 ANX8 ANX8_HUMAN (P13928) 602396 VAR= 1 APC DP2.5 APC_HUMAN (P25054) 175100 VAR= 25 Disease APCS PTX2 SAMP_HUMAN (P02743) 104770 VAR= 3 3D APOA1 APA1_HUMAN (P02647) 107680 VAR= 20 Disease 3D APOA4 APA4_HUMAN (P06727) 107690 VAR= 13 APOB APB_HUMAN (P04114) 107730 VAR= 16 Disease APOC2 APC2 APC2_HUMAN (P02655) 207750 VAR= 4 Disease APOC3 APC3_HUMAN (P02656) 107720 VAR= 2 Disease APOE APE_HUMAN (P02649) 107741 VAR= 28 Disease 3D Xdb APOH B2G1 APOH_HUMAN (P02749) 138700 VAR= 1 APP A4 A4_HUMAN (P05067) 104300 VAR= 9 Disease 3D Xdb APRT APT_HUMAN (P07741) 102600 VAR= 3 Disease AQP1 CHIP28 AQP1_HUMAN (P29972) 107776 VAR= 1 AQP2 AQP2_HUMAN (P41181) 107777 VAR= 3 Disease AR ANDR_HUMAN (P10275) 313700 VAR= 54 Disease Xdb ARG1 ARGI_HUMAN (P05089) 207800 VAR= 2 Disease ARSA ARSA_HUMAN (P15289) 250100 VAR= 39 Disease 3D ARSB ARSB_HUMAN (P15848) 253200 VAR= 12 Disease 3D ARSE ARSE_HUMAN (P51690) 302950 VAR= 5 Disease ASIP AGTIL AGSW_HUMAN (P42127) 600201 VAR= 1 ASL ARLY_HUMAN (P04424) 207900 VAR= 4 Disease 3D ASPA ASP ACY2_HUMAN (P45381) 271900 VAR= 7 Disease ASS ASSY_HUMAN (P00966) 215700 VAR= 14 Disease AT3 ANT3_HUMAN (P01008) 107300 VAR= 61 Disease 3D ATP2B1 PMCA1 ATCP_HUMAN (P20020) 108731 VAR= 1 ATP7A MNK AT7A_HUMAN (Q04656) 300011 VAR= 4 Disease 3D ATP7B WND AT7B_HUMAN (P35670) 277900 VAR= 55 Disease AVP ARVP NEU2_HUMAN (P01185) 192340 VAR= 15 Disease AVPR2 ADHR V2R_HUMAN (P30518) 304800 VAR= 31 Disease AZU1 CAP7_HUMAN (P20160) 162815 VAR= 1 3D BCHE CHE1 CHLE_HUMAN (P06276) 177400 VAR= 5 Disease BCKDHA ODBA_HUMAN (P12694) 248600 VAR= 6 Disease BCKDHB ODBB_HUMAN (P21953) 248611 VAR= 1 Disease BCL2 BCL2_HUMAN (P10415) 151430 VAR= 3 Disease BCP OPSB_HUMAN (P03999) 190900 VAR= 3 Disease BDKRB2 BKR2 BRB2_HUMAN (P30411) 113503 VAR= 1 BDNF BDNF_HUMAN (P23560) 113505 VAR= 1 3D BF CFAB_HUMAN (P00751) 138470 VAR= 4 BLM BLM_HUMAN (P54132) 210900 VAR= 3 Disease BONZO STRL33 BONZ_HUMAN (O00574) VAR= 1 BRCA1 BRC1_HUMAN (P38398) 113705 VAR= 37 Disease Xdb BRCA2 BRC2_HUMAN (P51587) 600185 VAR= 20 Disease BTD BTD_HUMAN (P43251) 253260 VAR= 1 Disease BTK ATK BTK_HUMAN (Q06187) 300300 VAR= 67 Disease 3D Xdb C1NH C1IN IC1_HUMAN (P05155) 106100 VAR= 17 Disease C1QB C1QB_HUMAN (P02746) 120570 VAR= 1 C3 CO3_HUMAN (P01024) 120700 VAR= 4 Disease C4A/C4B CO4_HUMAN (P01028) 120790 VAR= 9 Disease C4BPA C4BP C4BP_HUMAN (P04003) 120830 VAR= 2 C5 CO5_HUMAN (P01031) 120900 VAR= 1 3D C6 CO6_HUMAN (P13671) 217050 VAR= 1 CA1 CAH1_HUMAN (P00915) 114800 VAR= 2 3D CA2 CAH2_HUMAN (P00918) 259730 VAR= 5 Disease 3D CALCR CALR_HUMAN (P30988) 114131 VAR= 1 CAPN3 CANP3 CAN3_HUMAN (P20807) 114240 VAR= 8 Disease CASP3 CPP32 ICE3_HUMAN (P42574) 600636 VAR= 1 3D CASR PCAR1 CASR_HUMAN (P41180) 601199 VAR= 16 Disease CAST ICAL_HUMAN (P20810) 114090 VAR= 1 CAV3 CAV3_HUMAN (P56539) 601253 VAR= 2 Disease Xdb CBG CBG_HUMAN (P08185) 122500 VAR= 1 Disease CBS CBS_HUMAN (P35520) 236200 VAR= 24 Disease CD4 CD4_HUMAN (P01730) 186940 VAR= 1 3D Xdb CD40LG CD40L CD4L_HUMAN (P29965) 308230 VAR= 16 Disease 3D Xdb CD44 LHR CD44_HUMAN (P16070) 107269 VAR= 1 Xdb CD52 HE5 CD52_HUMAN (P31358) 114280 VAR= 1 Xdb CDK4 CDK4_HUMAN (P11802) 123829 VAR= 1 Disease CDKN1C KIP2 CDNC_HUMAN (P49918) 600856 VAR= 4 Disease CDKN2A CDKN2 CDN2_HUMAN (P42771) 600160 VAR= 69 Disease CDKN2B MTS2 CDN5_HUMAN (P42772) 600431 VAR= 2 Disease CES2 EST1_HUMAN (P23141) 114836 VAR= 2 CETP CETP_HUMAN (P11597) 118470 VAR= 1 Disease CFTR CFTR_HUMAN (P13569) 602421 VAR= 142 Disease 3D Xdb CGB CGHB_HUMAN (P01233) 118860 VAR= 1 3D CGM1 CGM1_HUMAN (P40198) 114890 VAR= 1 Xdb CHRNA1 CHNRA ACHA_HUMAN (P02708) 100690 VAR= 5 Disease CHRNB1 CHRNB ACHB_HUMAN (P11230) 100710 VAR= 2 Disease CHRNE ACHRE ACHE_HUMAN (Q04844) 100725 VAR= 6 Disease CIITA C2TA_HUMAN (P33076) 600005 VAR= 3 Disease CLAPB1 ADB_HUMAN (P21851) 601025 VAR= 1 CLCN1 CLC1 CLC1_HUMAN (P35523) 118425 VAR= 25 Disease CLCN5 CLCK2 CLC5_HUMAN (P51795) 300008 VAR= 9 Disease CLCNKB CICL_HUMAN (P51801) 602023 VAR= 5 Disease CLN3 CLN3_HUMAN (Q13286) 204200 VAR= 6 Disease CMKBR5 CKR5_HUMAN (P51681) 601373 VAR= 25 CMOAT MRP2 MRP2_HUMAN (Q92887) 601107 VAR= 1 Disease COL10A1 CA1A_HUMAN (Q03692) 120110 VAR= 13 Disease COL11A2 CA2B_HUMAN (P13942) 120290 VAR= 1 Disease COL1A1 CA11_HUMAN (P02452) 120150 VAR= 91 Disease Xdb COL1A2 CA21_HUMAN (P08123) 120160 VAR= 54 Disease Xdb COL2A1 CA12_HUMAN (P02458) 120140 VAR= 28 Disease COL3A1 CA13_HUMAN (P02461) 120180 VAR= 41 Disease Xdb COL4A3 CA34_HUMAN (Q01955) 120070 VAR= 2 COL4A4 CA44_HUMAN (P53420) 120131 VAR= 2 Disease COL4A5 CA54_HUMAN (P29400) 303630 VAR= 61 Disease COL5A1 CA15_HUMAN (P20908) 120215 VAR= 1 Disease COL7A1 CA17_HUMAN (Q02388) 120120 VAR= 29 Disease COMP COMP_HUMAN (P49747) 600310 VAR= 14 Disease CORO1 CORO_HUMAN (P31146) VAR= 2 COT KCOT_HUMAN (P41279) VAR= 2 COX4 COX4_HUMAN (P13073) 123864 VAR= 1 CP CERU_HUMAN (P00450) 117700 VAR= 2 3D CPO HEM6_HUMAN (P36551) 121300 VAR= 10 Disease CPT2 CPT2_HUMAN (P23786) 600650 VAR= 6 Disease CRX CRX_HUMAN (O43186) 602225 VAR= 2 Disease CRYAA CRYA1 CRAA_HUMAN (P02489) 123580 VAR= 1 Disease CSF2 GMCSF CSF2_HUMAN (P04141) 138960 VAR= 1 3D CSH1/CSH3 PLC_HUMAN (P01243) 150200 VAR= 2 CST3 CYTC_HUMAN (P01034) 105150 VAR= 1 Disease CST5 CYTD_HUMAN (P28325) 123858 VAR= 1 CSTA STF1 CYTA_HUMAN (P01040) 184600 VAR= 1 3D CSTB STFB CYTB_HUMAN (P04080) 601145 VAR= 1 Disease 3D Xdb CTSB CATB_HUMAN (P07858) 116810 VAR= 1 3D CTSG CATG_HUMAN (P08311) 116830 VAR= 1 3D CTSK CATK_HUMAN (P43235) 601105 VAR= 2 Disease 3D CSX NKX2-5 HK25_HUMAN (P52952) 600584 VAR= 1 Disease CYBA C24A_HUMAN (P13498) 233690 VAR= 5 Disease CYBB C24B_HUMAN (P04839) 306400 VAR= 8 Disease CYC CYC_HUMAN (P00001) 123970 VAR= 1 CYP11B1 S11BH CPN1_HUMAN (P15538) 202010 VAR= 6 Disease CYP11B2 CPN2_HUMAN (P19099) 124080 VAR= 2 Disease CYP17 S17AH CPT7_HUMAN (P05093) 202110 VAR= 11 Disease CYP21B CYP21 CPS1_HUMAN (P08686) 201910 VAR= 19 Disease CYP27 CP27_HUMAN (Q02318) 213700 VAR= 2 Disease CYP2A6 CPA6_HUMAN (P11509) 122720 VAR= 1 CYP2C8 CPC8_HUMAN (P10632) 601129 VAR= 4 CYP2D6 CPD6_HUMAN (P10635) 124030 VAR= 1 CYP4A11 CP4Y_HUMAN (Q02928) 601310 VAR= 1 CYP4F3 LTB4H CPF3_HUMAN (Q08477) 601270 VAR= 1 DAF CD55 DAF_HUMAN (P08174) 125240 VAR= 5 Xdb DAX1 DAX1_HUMAN (P51843) 300200 VAR= 3 Disease DBH DOPO_HUMAN (P09172) 223360 VAR= 1 DBT BCATE2 ODB2_HUMAN (P11182) 248610 VAR= 1 Disease DCC DCC_HUMAN (P43146) 120470 VAR= 3 Disease DCTN1 DYNA_HUMAN (Q14203) 601143 VAR= 1 DEFA1 DEF1/DEF3 DEFN_HUMAN (P11479) 125220 VAR= 1 3D DIA1 NC5R_HUMAN (P00387) 250800 VAR= 5 Disease DLD LAD DLDH_HUMAN (P09622) 246900 VAR= 2 Disease DLK DLK_HUMAN (P80370) VAR= 1 DLST DLTS ODO2_HUMAN (P36957) 126063 VAR= 3 DMD DMD_HUMAN (P11532) 310200 VAR= 27 Disease DNASE1 DNL1 DRN1_HUMAN (P24855) 125505 VAR= 3 DRA DRA_HUMAN (P40879) 126650 VAR= 2 Disease DRD2 D2DR_HUMAN (P14416) 126450 VAR= 1 Disease DRD3 D3DR_HUMAN (P35462) 126451 VAR= 1 DRD4 D4DR_HUMAN (P21917) 126452 VAR= 5 DRD5 DRD1B DBDR_HUMAN (P21918) 126448 VAR= 4 DTDST DTD DTD_HUMAN (P50443) 222600 VAR= 6 Disease ECGF1 TYPH_HUMAN (P19971) 131222 VAR= 1 Xdb EDA EDA_HUMAN (Q92838) 305100 VAR= 2 Disease EDN3 ET3_HUMAN (P14138) 131242 VAR= 1 Disease EDNRB ETRB ETBR_HUMAN (P24530) 131244 VAR= 7 Disease EFNB3 EPLG8 EFB3_HUMAN (Q15768) 602297 VAR= 1 EGF EGF_HUMAN (P01133) 131530 VAR= 1 EIF2G IF2G_HUMAN (P41091) VAR= 1 EMD STA EMD_HUMAN (P50402) 310300 VAR= 3 Disease Xdb ENG END EGLN_HUMAN (P17813) 131195 VAR= 2 Disease Xdb ENO2 ENOG_HUMAN (P09104) 131360 VAR= 2 EPB42 E42P 42_HUMAN (P16452) 177070 VAR= 1 Disease EPHB2 EPTH3 EPB2_HUMAN (P29323) 176946 VAR= 1 EPHX1 EPHX HYEP_HUMAN (P07099) 132810 VAR= 3 ESD ESTD_HUMAN (P10768) 133280 VAR= 1 ESR1 ESR ESTR_HUMAN (P03372) 133430 VAR= 4 3D ETFA ETFA_HUMAN (P13804) 231680 VAR= 3 Disease 3D ETFB ETFB_HUMAN (P38117) 130410 VAR= 1 Disease 3D EXT1 EXT1_HUMAN (Q16394) 133700 VAR= 1 Disease EXT2 EXT2_HUMAN (Q93063) 133701 VAR= 1 Disease EYA1 EYA1_HUMAN (Q99502) 601653 VAR= 2 Disease F11 FA11_HUMAN (P03951) 134540 VAR= 1 Disease F12 FA12_HUMAN (P00748) 234000 VAR= 2 Disease F13A F13A_HUMAN (P00488) 134570 VAR= 4 Disease 3D F13B F13B_HUMAN (P05160) 134580 VAR= 1 Disease F2 THRB_HUMAN (P00734) 176930 VAR= 9 Disease 3D F5 FA5_HUMAN (P12259) 134400 VAR= 3 Disease F7 FA7_HUMAN (P08709) 227500 VAR= 23 Disease 3D Xdb F8C FA8_HUMAN (P00451) 134430 VAR= 155 Disease 3D Xdb F8VWF VWF VWF_HUMAN (P04275) 193400 VAR= 41 Disease 3D Xdb F9 FA9_HUMAN (P00740) 134510 VAR= 70 Disease 3D Xdb FABP2 FABI_HUMAN (P12104) 134640 VAR= 1 FAC FACC FACC_HUMAN (Q00597) 227645 VAR= 9 Disease FAH FAAA_HUMAN (P16930) 276700 VAR= 16 Disease FBN1 FBN FBN1_HUMAN (P35555) 134797 VAR= 73 Disease 3D Xdb FBN2 FBN2_HUMAN (P35556) 121050 VAR= 3 Disease FBP1 FBP F16P_HUMAN (P09467) 229700 VAR= 3 Disease 3D FCGR1A FCG1 FCG1_HUMAN (P12315) 146760 VAR= 2 Xdb FCGR1A FCGR1 FCG0_HUMAN (P12314) 146760 VAR= 2 Xdb FCGR2A FCG2 FCGA_HUMAN (P12318) 146790 VAR= 1 FCGR3 FCG3 FCG3_HUMAN (P08637) 146740 VAR= 9 FDXR ADXR ADRO_HUMAN (P22570) 103270 VAR= 1 FECH HEMZ_HUMAN (P22830) 177000 VAR= 3 Disease FER TYK3 FER_HUMAN (P16591) 176942 VAR= 1 FGA FIBA_HUMAN (P02671) 134820 VAR= 12 Disease 3D FGB FIBB_HUMAN (P02675) 134830 VAR= 7 Disease 3D FGFR1 FLG FGR1_HUMAN (P11362) 136350 VAR= 1 Disease 3D FGFR2 BEK FGR2_HUMAN (P21802) 176943 VAR= 28 Disease FGFR3 JTK4 FGR3_HUMAN (P22607) 134934 VAR= 12 Disease FGG FIBG_HUMAN (P02679) 134850 VAR= 14 Disease 3D FH FUMH_HUMAN (P07954) 136850 VAR= 1 Disease FKBP2 FKBP13 FKB2_HUMAN (P26885) 186946 VAR= 3 FMR1 FMR1_HUMAN (Q06787) 309550 VAR= 2 Disease 3D FPR1 FMLR_HUMAN (P21462) 136537 VAR= 3 FRK FRK_HUMAN (P42685) VAR= 1 FUCA1 FUCO_HUMAN (P04066) 230000 VAR= 3 Disease FUT1 FUT1_HUMAN (P19526) 211100 VAR= 5 FUT2 SEC2 FUT2_HUMAN (Q10981) 182100 VAR= 1 FUT3 LE FUT3_HUMAN (P21217) 111100 VAR= 5 FY GPD DUFF_HUMAN (Q16570) 110700 VAR= 1 G6PD G6PD_HUMAN (P11413) 305900 VAR= 65 Disease Xdb G6PT G6PT_HUMAN (P35575) 232200 VAR= 14 Disease GAA LYAG_HUMAN (P10253) 232300 VAR= 31 Disease Xdb GABRB1 GAB1_HUMAN (P18505) 137190 VAR= 1 GALC GALC_HUMAN (P54803) 245200 VAR= 28 Disease GALE GALE_HUMAN (Q14376) 230350 VAR= 3 Disease GALK1 GALK GAL1_HUMAN (P51570) 230200 VAR= 1 Disease GALNR1 GALNR GALR_HUMAN (P47211) 600377 VAR= 1 GALNS GA6S_HUMAN (P34059) 253000 VAR= 68 Disease GALT GAL7_HUMAN (P07902) 230400 VAR= 84 Disease Xdb GBA GC GLCM_HUMAN (P04062) 230800 VAR= 61 Disease GC VTDB_HUMAN (P02774) 139200 VAR= 2 GCDH GCDH_HUMAN (Q92947) 231670 VAR= 3 Disease GCGR GLR_HUMAN (P47871) 138033 VAR= 1 GCH1 GCH GCH1_HUMAN (P30793) 600225 VAR= 18 Disease Xdb GCK HXKP_HUMAN (P35557) 138079 VAR= 18 Disease 3D GCP OPSG_HUMAN (P04001) 303800 VAR= 1 Disease GCSP GCSP_HUMAN (P23378) 238300 VAR= 1 Disease GGCX GC VKGC_HUMAN (P38435) 137167 VAR= 1 GHR GHR_HUMAN (P10912) 600946 VAR= 9 Disease 3D GHRH GHRF SLIB_HUMAN (P01286) 139190 VAR= 1 GJB1 CX32 CXB1_HUMAN (P08034) 304040 VAR= 54 Disease GJB2 CXB2_HUMAN (P29033) 121011 VAR= 2 Disease GK GLPK_HUMAN (P32189) 307030 VAR= 4 Disease GLA AGAL_HUMAN (P06280) 301500 VAR= 65 Disease GLB1 BGAL_HUMAN (P16278) 230500 VAR= 9 Disease GLRA1 GRA1_HUMAN (P23415) 138491 VAR= 6 Disease GLRX GRX GLRX_HUMAN (P35754) 600443 VAR= 1 GLUD1 GLUD DHE3_HUMAN (P00367) 138130 VAR= 1 GM2A SAP3_HUMAN (P17900) 272750 VAR= 2 Disease GMPR GUAC_HUMAN (P36959) 139265 VAR= 2 GNAS1 GNAS GBAS_HUMAN (P04895) 139320 VAR= 6 Disease GP1BA GPBA_HUMAN (P07359) 231200 VAR= 7 Disease GP9 GPIX_HUMAN (P14770) 173515 VAR= 2 Disease GPI G6PI_HUMAN (P06744) 172400 VAR= 10 Disease GPT1 AAT1 ALAT_HUMAN (P24298) 138200 VAR= 1 GPX2 GSHG_HUMAN (P18283) 138319 VAR= 2 GRIK3 GLUR7 GLK3_HUMAN (Q13003) 138243 VAR= 1 GRL GCR_HUMAN (P04150) 138040 VAR= 4 Disease GRM7 MGLUR7 MGR7_HUMAN (Q14831) VAR= 1 GRN GRN_HUMAN (P28799) 138945 VAR= 1 GSN GELS_HUMAN (P06396) 137350 VAR= 2 Disease 3D GSS GSHB_HUMAN (P48637) 601002 VAR= 13 Disease GSTM1 GST1 GTM1_HUMAN (P09488) 138350 VAR= 1 GT197 G197_HUMAN (Q14457) VAR= 1 GUCY2D GUC2D CYGD_HUMAN (Q02846) 600179 VAR= 1 Disease 3D GUSB BGLR_HUMAN (P08236) 253220 VAR= 6 Disease 3D GYPA GPA GLPA_HUMAN (P02724) 111300 VAR= 2 3D GYPB GPB GLPB_HUMAN (P06028) 111740 VAR= 1 GYPC GPC GLPC_HUMAN (P04921) 110750 VAR= 3 H1F2 H1D_HUMAN (P16403) 142710 VAR= 1 HADHA HADH ECHA_HUMAN (P40939) 600890 VAR= 1 Disease HADHB ECHB_HUMAN (P55084) 143450 VAR= 3 Disease HAL HIS HUTH_HUMAN (P42357) 235800 VAR= 1 HBA1/HBA2 HBA_HUMAN (P01922) 141800 VAR= 133 Disease 3D Xdb HBB HBB_HUMAN (P02023) 141900 VAR= 238 Disease 3D Xdb HBD HBD_HUMAN (P02042) 142000 VAR= 27 Xdb HBG1/HBG2 HBG_HUMAN (P02096) 142200 VAR= 57 Disease 3D Xdb HCF2 HEP2_HUMAN (P05546) 142360 VAR= 1 Disease HD IT15 HD_HUMAN (P42858) 143100 VAR= 1 Disease Xdb HE2 HE2_HUMAN (Q08648) VAR= 3 HEXA HEXA_HUMAN (P06865) 272800 VAR= 44 Disease 3D Xdb HEXB HEXB_HUMAN (P07686) 268800 VAR= 8 Disease 3D HF1 HF CFAH_HUMAN (P08603) 134370 VAR= 1 3D HFE HLAH HFE_HUMAN (Q30201) 235200 VAR= 2 Disease HFL1 CFHL CFH1_HUMAN (Q03591) 134371 VAR= 3 HGD HGO HGD_HUMAN (Q93099) 203500 VAR= 2 Disease HK2 HXK2_HUMAN (P52789) 601125 VAR= 1 HLA-A HLAA 1A01_HUMAN (P30443) 142800 VAR= 2 HLA-A HLAA 1A02_HUMAN (P01892) 142800 VAR= 14 3D HLA-A HLAA 1A03_HUMAN (P04439) 142800 VAR= 2 HLA-A HLAA 1A11_HUMAN (P13746) 142800 VAR= 1 HLA-A HLAA 1A24_HUMAN (P05534) 142800 VAR= 4 HLA-A HLAA 1A26_HUMAN (P30450) 142800 VAR= 1 HLA-A HLAA 1A29_HUMAN (P30512) 142800 VAR= 1 HLA-A HLAA 1A30_HUMAN (P16188) 142800 VAR= 7 HLA-A HLAA 1A33_HUMAN (P16190) 142800 VAR= 4 HLA-A HLAA 1A34_HUMAN (P30453) 142800 VAR= 7 HLA-A HLAA 1A66_HUMAN (P30457) 142800 VAR= 3 HLA-A HLAA 1A68_HUMAN (P01891) 142800 VAR= 5 3D HLA-DRA HA2R_HUMAN (P01903) 142860 VAR= 1 3D HLCS BPL1_HUMAN (P50747) 253270 VAR= 1 Disease HMBS PBGD HEM3_HUMAN (P08397) 176000 VAR= 33 Disease HMG17 HG17_HUMAN (P05204) 163910 VAR= 1 HMGCL HMGL_HUMAN (P35914) 246450 VAR= 1 Disease HP HPT1_HUMAN (P00737) 140100 VAR= 1 HPRT1 HPRT HPRT_HUMAN (P00492) 308000 VAR= 57 Disease 3D HRAS HRAS1 RASH_HUMAN (P01112) 190020 VAR= 3 Disease 3D HRC HCP SRCH_HUMAN (P23327) 142705 VAR= 1 HSD11B2 HSD11K DHI2_HUMAN (P80365) 218030 VAR= 2 Disease HSD17B1 EDH17B1 DHB1_HUMAN (P14061) 109684 VAR= 2 3D HSD17B3 EDH17B3 DHB3_HUMAN (P37058) 264300 VAR= 4 Disease HSD3B1 HSDB3A 3BH1_HUMAN (P14060) 109715 VAR= 1 HSD3B2 HSDB3B 3BH2_HUMAN (P26439) 201810 VAR= 6 Disease HTN3 HIS2 HIS3_HUMAN (P15516) 142702 VAR= 2 HTR2A HTR2 5H2A_HUMAN (P28223) 182135 VAR= 2 HTR2C HTR1C 5H2C_HUMAN (P28335) 312861 VAR= 1 IDS IDS_HUMAN (P22304) 309900 VAR= 45 Disease IDUA IDUA_HUMAN (P35475) 252800 VAR= 30 Disease IFNA14 INAD_HUMAN (P01570) 147579 VAR= 3 IFNA2 INA2_HUMAN (P01563) 147562 VAR= 1 3D IFNAR1 IFNAR INR1_HUMAN (P17181) 107450 VAR= 1 IFNB1 IFNB INB_HUMAN (P01574) 147640 VAR= 1 3D IFNG ING_HUMAN (P01579) 147570 VAR= 2 3D IFNGR2 IFNGT1 INGS_HUMAN (P38484) 147569 VAR= 1 IGFBP1 IBP1 IBP1_HUMAN (P08833) 146730 VAR= 1 IGHA2 ALC2_HUMAN (P01877) 147000 VAR= 6 IGHE EPC_HUMAN (P01854) 147180 VAR= 1 3D IGHG1 GC1_HUMAN (P01857) 147100 VAR= 3 3D IGHG2 GC2_HUMAN (P01859) 147110 VAR= 1 IGHG3 GC3_HUMAN (P01860) 147120 VAR= 7 IGHM MUC_HUMAN (P01871) 147020 VAR= 2 IGKC KAC_HUMAN (P01834) 147200 VAR= 1 IGLC1/IGLC2/IGLC3 LAC_HUMAN (P01842) 147220 VAR= 5 3D IL2 IL2_HUMAN (P01585) 147680 VAR= 2 3D Xdb IL2RG CYRG_HUMAN (P31785) 300400 VAR= 35 Disease 3D Xdb IL8RA CXCR1 IL8A_HUMAN (P25024) 146929 VAR= 1 INS INS_HUMAN (P01308) 176730 VAR= 6 Disease 3D INSR INSR_HUMAN (P06213) 147670 VAR= 24 Disease 3D IRS1 IRS1_HUMAN (P35568) 147545 VAR= 3 Disease 3D ITGA2 ITA2_HUMAN (P17301) 192974 VAR= 1 ITGA2B ITGAB ITAB_HUMAN (P08514) 273800 VAR= 4 Disease ITGA4 ITA4_HUMAN (P13612) 192975 VAR= 1 Xdb ITGB2 CD18 ITB2_HUMAN (P05107) 600065 VAR= 9 Disease ITGB3 GP3A ITB3_HUMAN (P05106) 173470 VAR= 10 Disease IVD IVD_HUMAN (P26440) 243500 VAR= 2 Disease 3D JAK3 JAK3_HUMAN (P52333) 600173 VAR= 1 Disease KAL1 KAL KALM_HUMAN (P23352) 147950 VAR= 2 Disease KCNA1 CIK1_HUMAN (Q09470) 176260 VAR= 4 Disease KCNA9 KVLQT1 CIK9_HUMAN (P51787) 192500 VAR= 16 Disease KCNE1 MINK_HUMAN (P15382) 176261 VAR= 2 Disease KCNJ1 ROMK1 IRK1_HUMAN (P48048) 600359 VAR= 9 Disease KCNJ11 IRKB_HUMAN (Q14654) 600937 VAR= 1 Disease KEL KELL_HUMAN (P23276) 110900 VAR= 7 KHK KHK_HUMAN (P50053) 229800 VAR= 4 Disease KIT KKIT_HUMAN (P10721) 164920 VAR= 7 Disease Xdb KLK1 KLK1_HUMAN (P06870) 147910 VAR= 2 KRAS2 RASK_HUMAN (P01116) 190070 VAR= 3 Disease KRAS2 RASL_HUMAN (P01118) 190070 VAR= 3 Disease KRT1 KRTA K2C1_HUMAN (P04264) 139350 VAR= 12 Disease KRT10 K1CJ_HUMAN (P13645) 148080 VAR= 8 Disease KRT12 K1CL_HUMAN (Q99456) 601687 VAR= 2 Disease KRT13 K1CM_HUMAN (P13646) 148065 VAR= 1 Disease KRT14 K1CN_HUMAN (P02533) 148066 VAR= 7 Disease KRT16 K1CP_HUMAN (P30654) 148067 VAR= 1 Disease KRT17 K1CQ_HUMAN (Q04695) 148069 VAR= 5 Disease KRT18 CYK18 K1CR_HUMAN (P05783) 148070 VAR= 1 Disease KRT2E K22E_HUMAN (P35908) 600194 VAR= 3 Disease KRT3 K2C3_HUMAN (P12035) 148043 VAR= 1 Disease KRT4 CYK4 K2C4_HUMAN (P19013) 123940 VAR= 2 KRT5 K2C5_HUMAN (P13647) 148040 VAR= 7 Disease KRT6A K6A K2CA_HUMAN (P02538) 148041 VAR= 1 Disease KRT9 K1CI_HUMAN (P35527) 144200 VAR= 4 Disease L1CAM CAML1 CAML_HUMAN (P32004) 308840 VAR= 23 Disease Xdb LAMB3 LMB3_HUMAN (Q13751) 150310 VAR= 1 Disease LCAT LCAT_HUMAN (P04180) 136120 VAR= 17 Disease LCP1 PLS2 PLSL_HUMAN (P13796) 153430 VAR= 1 LDHA LDHM_HUMAN (P00338) 150000 VAR= 2 Disease LDHB LDHH_HUMAN (P07195) 150100 VAR= 7 Disease LDLR LDLR_HUMAN (P01130) 143890 VAR= 109 Disease 3D Xdb LEP OB OB_HUMAN (P41159) 164160 VAR= 1 LHB LSHB_HUMAN (P01229) 152780 VAR= 1 Disease LHCGR LHRHR LSHR_HUMAN (P22888) 152790 VAR= 11 Disease 3D LIG1 DNL1_HUMAN (P18858) 126391 VAR= 2 Disease LIPA LIPA_HUMAN (P38571) 278000 VAR= 2 Disease LIPC HTGL LIPH_HUMAN (P11150) 151670 VAR= 4 Disease LIS1 PAFAHA LIS1_HUMAN (P43034) 601545 VAR= 1 Disease Xdb LOX LYOX_HUMAN (P28300) 153455 VAR= 1 LPA APOA_HUMAN (P08519) 152200 VAR= 1 LPL LIPD LIPL_HUMAN (P06858) 238600 VAR= 35 Disease LTA TNFB TNFB_HUMAN (P01374) 153440 VAR= 2 LW LW_HUMAN (Q14773) 111250 VAR= 1 LYZ LZM LYC_HUMAN (P00695) 153450 VAR= 2 Disease 3D MAGEA1 MAGE1 MAG1_HUMAN (P43355) 300016 VAR= 1 MAGEA4 MAGE4 MAG4_HUMAN (P43358) VAR= 1 MAN2B1 MANB MA2B_HUMAN (O00754) 248500 VAR= 1 Disease MAT1A MATA1 METL_HUMAN (Q00266) 250850 VAR= 8 Disease MB MYG_HUMAN (P02144) 160000 VAR= 4 MBL MABC_HUMAN (P11226) 154545 VAR= 2 3D MC1R MSHR MSHR_HUMAN (Q01726) 155555 VAR= 2 MC2R ACTHR ACTR_HUMAN (Q01718) 202200 VAR= 5 Disease MCC CRCM_HUMAN (P23508) 159350 VAR= 5 Disease MDK NEGF2 MK_HUMAN (P21741) 162096 VAR= 1 MET MET_HUMAN (P08581) 164860 VAR= 10 Disease MGAT2 GNT2_HUMAN (Q10469) 602616 VAR= 2 Disease MLH1 COCA2 MLH1_HUMAN (P40692) 120436 VAR= 30 Disease MMP7 MPSL1 COG7_HUMAN (P09237) 178990 VAR= 1 3D MMP8 CLG1 COG8_HUMAN (P22894) 120355 VAR= 1 3D MPZ MYP0_HUMAN (P25189) 159440 VAR= 29 Disease MSH2 MSH2_HUMAN (P43246) 120435 VAR= 17 Disease MSH6 GTBP MSH6_HUMAN (P52701) 600678 VAR= 3 MST1 HGFL HGFL_HUMAN (P26927) 142408 VAR= 2 MST1R RON RON_HUMAN (Q04912) 600168 VAR= 1 Xdb MSX1 HOX7 HMX1_HUMAN (P28360) 142983 VAR= 1 Disease MSX2 HOX8 HMX2_HUMAN (P35548) 123101 VAR= 1 Disease MTATP6 ATP6 ATP6_HUMAN (P00846) 516060 VAR= 6 Disease MTCO3 COIII COX3_HUMAN (P00414) 516050 VAR= 3 Disease MTCYB COB CYB_HUMAN (P00156) 516020 VAR= 2 MTHFR MTHR_HUMAN (P42898) 236250 VAR= 7 Disease MTM1 CG2 MTM1_HUMAN (Q13496) 310400 VAR= 24 Disease MTND1 ND1 NU1M_HUMAN (P03886) 516000 VAR= 8 Disease MTND2 ND2 NU2M_HUMAN (P03891) 502500 VAR= 4 Disease MTND4 ND4 NU4M_HUMAN (P03905) 516003 VAR= 2 Disease MTND5 ND5 NU5M_HUMAN (P03915) 516005 VAR= 2 Disease MTND6 ND6 NU6M_HUMAN (P03923) 516006 VAR= 2 Disease MTR METH_HUMAN (Q99707) 156570 VAR= 6 Disease MUT MUTA_HUMAN (P22033) 251000 VAR= 24 Disease MVK KIME_HUMAN (Q03426) 251170 VAR= 1 Disease MXI1 MXI1_HUMAN (P50539) 600020 VAR= 1 Disease MYH7 MYHCB MYSB_HUMAN (P12883) 160760 VAR= 31 Disease MYL2 MLRV_HUMAN (P10916) 160781 VAR= 3 Disease MYL3 MLEV_HUMAN (P08590) 160790 VAR= 2 Disease MYOC TIGR MYOC_HUMAN (Q99972) 601652 VAR= 6 Disease NAGA NAGA_HUMAN (P17050) 104170 VAR= 3 Disease NAGLU UFHSD1 ANAG_HUMAN (P54802) 252920 VAR= 2 Disease NDP NDP_HUMAN (Q00604) 310600 VAR= 28 Disease NF1 NF1_HUMAN (P21359) 162200 VAR= 15 Disease NF2 SCH MERL_HUMAN (P35240) 101000 VAR= 18 Disease NFKB2 KBF2_HUMAN (Q00653) 164012 VAR= 2 Disease NK4 NK4_HUMAN (P24001) VAR= 1 NKAT1 NKR1_HUMAN (P43626) VAR= 3 NME1 NM23 NDKA_HUMAN (P15531) 156490 VAR= 1 NP PNP PNPH_HUMAN (P00491) 164050 VAR= 5 Disease 3D NPPA PND ANF_HUMAN (P01160) 108780 VAR= 1 3D NRAMP1 NRAMP NRM1_HUMAN (P49279) 600266 VAR= 3 NRAS RASN_HUMAN (P01111) 164790 VAR= 3 Disease NTF6A NT6A_HUMAN (P34132) VAR= 2 NTRK1 TRK TRKA_HUMAN (P04629) 191315 VAR= 1 Disease OA1 OA1_HUMAN (P51810) 300500 VAR= 3 Disease Xdb OAT OAT_HUMAN (P04181) 258870 VAR= 22 Disease 3D ODF1 ODFP ODFP_HUMAN (Q14990) 182878 VAR= 1 OTC OTC_HUMAN (P00480) 311250 VAR= 105 Disease Xdb P P_HUMAN (Q04671) 203200 VAR= 30 Disease Xdb P47 P47_HUMAN (P08567) 173570 VAR= 1 3D PAFAH2 PAFA_HUMAN (Q13093) 601690 VAR= 1 PAH PH4H_HUMAN (P00439) 261600 VAR= 167 Disease Xdb PAI1 PLANH1 PAI1_HUMAN (P05121) 173360 VAR= 1 PAX1 HUP48 PAX1_HUMAN (P15863) 167411 VAR= 1 PAX3 PAX3_HUMAN (P23760) 193500 VAR= 17 Disease PAX6 AN2 PAX6_HUMAN (P26367) 106210 VAR= 4 Disease Xdb PBP PBP_HUMAN (P30086) VAR= 1 PCBD DCOH PHS_HUMAN (P80095) 126090 VAR= 3 Disease 3D Xdb PCCB PCCB_HUMAN (P05166) 232050 VAR= 2 Disease PCI PLANH3 IPSP_HUMAN (P05154) 601841 VAR= 2 3D PCMT1 PIMT_HUMAN (P22061) 176851 VAR= 2 PDE6A PDEA CNRA_HUMAN (P16499) 180071 VAR= 1 Disease PDE6B PDEB CNRB_HUMAN (P35913) 180072 VAR= 3 Disease PDHA1 PHE1A ODPA_HUMAN (P08559) 208800 VAR= 17 Disease PDHB PHE1B ODPB_HUMAN (P11177) 179060 VAR= 1 PEPD PRD PEPD_HUMAN (P12955) 170100 VAR= 3 Disease PEX PEX_HUMAN (P78562) 307800 VAR= 9 Disease PEX5 PXR1 PEX5_HUMAN (P50542) 600414 VAR= 1 Disease PEX7 PTS2R PEX7_HUMAN (O00628) 601757 VAR= 2 Disease PFKL K6PL_HUMAN (P17858) 171860 VAR= 2 PFKM K6PF_HUMAN (P08237) 171850 VAR= 7 Disease PGA3/PGA4/PGA5 PEPA_HUMAN (P00790) 169700 VAR= 7 3D PGAM2 PGAMM PMGM_HUMAN (P15259) 261670 VAR= 2 Disease PGDH1 HGPD PGDH_HUMAN (P15428) 601688 VAR= 1 PGK1 PGKA PGK1_HUMAN (P00558) 311800 VAR= 9 Disease PGM1 PGMU_HUMAN (P36871) 171900 VAR= 3 PHB PHB_HUMAN (P35232) 176705 VAR= 2 Disease PHKA2 PHKLA KPB2_HUMAN (P46019) 306000 VAR= 10 Disease PHKB KPBB_HUMAN (Q93100) 172490 VAR= 1 PI AAT A1AT_HUMAN (P01009) 107400 VAR= 32 Disease 3D PI7 PN1 GDN_HUMAN (P07093) 177010 VAR= 1 PIGA PIGA_HUMAN (P37287) 311770 VAR= 2 Disease PIGR PIGR_HUMAN (P01833) 173880 VAR= 1 PITX2 RIEG PIX2_HUMAN (Q99697) 601542 VAR= 1 Disease PKD1 PKD1_HUMAN (P98161) 601313 VAR= 14 Disease PKLR PKL KPYR_HUMAN (P30613) 266200 VAR= 42 Disease PLAT UROT_HUMAN (P00750) 173370 VAR= 1 3D PLAU UROK_HUMAN (P00749) 191840 VAR= 1 3D PLG PLMN_HUMAN (P00747) 173350 VAR= 3 Disease 3D PLP MYPR_HUMAN (P06905) 312080 VAR= 20 Disease PMM2 PMM2_HUMAN (O15305) 601785 VAR= 4 Disease PMP22 GAS3 PM22_HUMAN (Q01453) 601097 VAR= 10 Disease PMS2 PMSL2 PMS2_HUMAN (P54278) 600259 VAR= 1 Disease PON1 PON PON1_HUMAN (P27169) 168820 VAR= 2 PON2 PON2_HUMAN (Q15165) 602447 VAR= 2 POR NCPR_HUMAN (P16435) 124015 VAR= 2 POU1F1 PIT1 HMP1_HUMAN (P28069) 173110 VAR= 6 Disease POU2AF1 OBF1 OBF1_HUMAN (Q16633) 601206 VAR= 2 POU3F4 BRN4 BRN4_HUMAN (P49335) 300039 VAR= 5 Disease POU5F1 OTF3 OC3B_HUMAN (P31359) 164177 VAR= 2 PPGB PRTP_HUMAN (P10619) 256540 VAR= 6 Disease 3D PPOX PPOX_HUMAN (P50336) 600923 VAR= 3 Disease PPP2R1A 2AAA_HUMAN (P30153) VAR= 1 PPT PPT_HUMAN (P50897) 600722 VAR= 1 Disease PRB1 PRP1_HUMAN (P04280) 168730 VAR= 2 PRH1/PRH2 PRPC_HUMAN (P02810) 168710 VAR= 2 PRKCD KPCD_HUMAN (Q05655) 176977 VAR= 2 PRNP PRIO_HUMAN (P04156) 176640 VAR= 15 Disease Xdb PROC PRTC_HUMAN (P04070) 176860 VAR= 77 Disease 3D PROS PROS1 PRTS_HUMAN (P07225) 176880 VAR= 3 Disease PRPS1 KPR1_HUMAN (P09329) 311850 VAR= 2 Disease PSAP SAP_HUMAN (P07602) 176801 VAR= 3 Disease PSEN1 PSNL1 PSN1_HUMAN (P49768) 104311 VAR= 44 Disease Xdb PSEN2 PSNL2 PSN2_HUMAN (P49810) 600759 VAR= 3 Disease PSMB8 LMP7 PRCY_HUMAN (P28062) 177046 VAR= 2 PTEN MMAC1 PTEN_HUMAN (O00633) 601728 VAR= 10 Disease PTGDS PDS PGHD_HUMAN (P41222) 176803 VAR= 10 PTH PTHY_HUMAN (P01270) 146200 VAR= 1 Disease 3D PTPN12 PTNC_HUMAN (Q05209) 600079 VAR= 1 Disease PTS PTPS_HUMAN (Q03393) 261640 VAR= 18 Disease Xdb PVS PVR PVR_HUMAN (P15151) 173850 VAR= 1 PXMP1 PMP70 PMP7_HUMAN (P28288) 170995 VAR= 1 Disease PYGM PHS2_HUMAN (P11217) 232600 VAR= 4 Disease PYY PYY_HUMAN (P10082) 600781 VAR= 1 QDPR DHPR DHPR_HUMAN (P09417) 261630 VAR= 11 Disease 3D Xdb RABS10 GS10_HUMAN (Q14088) VAR= 1 RAD54L XH2 RA54_HUMAN (P46100) 300032 VAR= 8 Disease RAG1 RAG-1 RAG1_HUMAN (P15918) 179615 VAR= 5 Disease RAG2 RAG-2 RAG2_HUMAN (P55895) 179616 VAR= 2 Disease RASA GTPA_HUMAN (P20936) 139150 VAR= 3 Disease 3D RB1 RB_HUMAN (P06400) 180200 VAR= 4 Disease RCP OPSR_HUMAN (P04000) 303900 VAR= 1 RDS PRPH RDS_HUMAN (P23942) 179605 VAR= 41 Disease Xdb RET RET_HUMAN (P07949) 164761 VAR= 52 Disease RHAG RHAG_HUMAN (Q02094) 180297 VAR= 1 Disease RHCE RHC RHCE_HUMAN (P18577) 111690 VAR= 8 RHD RHD_HUMAN (Q02161) 111680 VAR= 2 RHO OPSD_HUMAN (P08100) 180380 VAR= 71 Disease Xdb RHOK GRK1 RK_HUMAN (Q15835) 180381 VAR= 1 Disease RLBP1 CRAL_HUMAN (P12271) 180090 VAR= 1 Disease ROM1 ROM1_HUMAN (Q03395) 180721 VAR= 5 RP3 RPGR RPGR_HUMAN (Q92834) 312610 VAR= 3 Disease RPL10 QM RL10_HUMAN (P27635) 312173 VAR= 1 RPS6KA2 ISPK1 KS62_HUMAN (P51812) 601685 VAR= 1 RRAS2 RRA2_HUMAN (P17082) 600098 VAR= 1 Disease RYR1 RYDR RYNR_HUMAN (P21817) 180901 VAR= 14 Disease S100A5 S100D S105_HUMAN (P33763) 176991 VAR= 1 SAA1/SAA2 SAA_HUMAN (P02735) 104750 VAR= 9 SCN4A CIN4_HUMAN (P35499) 168300 VAR= 15 Disease SCNN1B SCAB_HUMAN (P51168) 600760 VAR= 2 Disease SCYA11 EOTA_HUMAN (P51671) 601156 VAR= 4 SCYA2 MCP1 MCP1_HUMAN (P13500) 158105 VAR= 1 3D SCYA8 SCYA10 MCP2_HUMAN (P80075) 602283 VAR= 1 SCYB6 GCP2 GCP2_HUMAN (P80162) 138965 VAR= 3 SDH2 SDHF DHSA_HUMAN (P31040) 600857 VAR= 1 Disease SELPLG SEPL_HUMAN (Q14242) 600738 VAR= 1 Xdb SEMG1 SEMG SEM1_HUMAN (P04279) 182140 VAR= 1 SFTPA SFTP1 PSPA_HUMAN (P07714) 178630 VAR= 5 SFTPB SFTP3 PSPB_HUMAN (P07988) 178640 VAR= 3 SFTPC SFTP2 PSPC_HUMAN (P11686) 178620 VAR= 1 SGSH HSS SPHM_HUMAN (P51688) 252900 VAR= 22 Disease SLC10A2 NTCP2 NTCI_HUMAN (Q12908) 601295 VAR= 4 Disease SLC12A3 TSC TSCC_HUMAN (P55017) 600968 VAR= 14 Disease SLC2A2 GLUT2 GTR2_HUMAN (P11168) 138160 VAR= 1 SLC2A4 GLUT4 GTR4_HUMAN (P14672) 138190 VAR= 2 SLC4A1 AE1 B3AT_HUMAN (P02730) 109270 VAR= 11 Disease 3D SLC5A1 SGLT1 SL51_HUMAN (P13866) 182380 VAR= 1 Disease SMN1 SMNT SMN1_HUMAN (Q16637) 600354 VAR= 5 Disease SMPD1 ASM ASM_HUMAN (P17405) 257200 VAR= 11 Disease SNCA NACP SYUA_HUMAN (P37840) 163890 VAR= 1 Disease SNF2L1 SNF2L SN21_HUMAN (P28370) 300012 VAR= 1 SOD1 SODC_HUMAN (P00441) 147450 VAR= 34 Disease 3D SOD2 SODM_HUMAN (P04179) 147460 VAR= 1 3D SORD DHSO_HUMAN (Q00796) 182500 VAR= 1 SOX9 SOX9_HUMAN (P48436) 211970 VAR= 8 Disease SP100 SP10_HUMAN (P23497) VAR= 2 SPRR1B CORB_HUMAN (P22528) 182266 VAR= 3 SPTA1 SPTA SPCA_HUMAN (P02549) 182860 VAR= 28 Disease SPTB1 SPTB SPCB_HUMAN (P11277) 182870 VAR= 11 Disease SRD5A2 S5A2_HUMAN (P31213) 264600 VAR= 1 Disease SRK ZAP70 ZA70_HUMAN (P43403) 176947 VAR= 1 Disease SRPX ETX1 SRPX_HUMAN (P78539) VAR= 3 SRY TDF SRY_HUMAN (Q05066) 480000 VAR= 17 Disease 3D STAR STAR_HUMAN (P49675) 600617 VAR= 2 Disease STK11 LKB1 ST11_HUMAN (Q15831) 602216 VAR= 1 Disease STP1 STP SUP1_HUMAN (P50225) 171150 VAR= 1 STP2 SUP2_HUMAN (P50226) 601292 VAR= 2 STS STS_HUMAN (P08842) 308100 VAR= 3 Disease SUOX SUOX_HUMAN (P51687) 272300 VAR= 4 Disease SUR SUR_HUMAN (Q09428) 600509 VAR= 1 Disease TAF2F TAFII55 T2D6_HUMAN (Q15545) 600573 VAR= 1 TAP1 PSF1 TAP1_HUMAN (Q03518) 170260 VAR= 2 TAP2 PSF2 TAP2_HUMAN (Q03519) 170261 VAR= 5 TAT ATTY_HUMAN (P17735) 276600 VAR= 1 Disease TBG THBG_HUMAN (P05543) 188600 VAR= 9 Disease TBX5 TBX5_HUMAN (Q99593) 601620 VAR= 1 Disease TBXA2R TA2R_HUMAN (P21731) 188070 VAR= 1 Disease TCF1 HNF1A HNFA_HUMAN (P20823) 142410 VAR= 3 Disease TCN2 TC2 TCO2_HUMAN (P20062) 275350 VAR= 4 TCOF1 TCOF_HUMAN (Q13428) 154500 VAR= 5 Disease TF TRFE_HUMAN (P02787) 190000 VAR= 2 3D TFDP2 DP2 TDP2_HUMAN (Q14188) 602160 VAR= 1 TG THYG_HUMAN (P01266) 188450 VAR= 1 Disease TGFBI BIGH3 BGH3_HUMAN (Q15582) 601692 VAR= 4 Disease TGM1 KTG TGLK_HUMAN (P22735) 190195 VAR= 6 Disease THRB ERBA2 THB1_HUMAN (P10828) 190160 VAR= 23 Disease 3D TIE2 TEK TIE2_HUMAN (Q02763) 600221 VAR= 1 Disease TIMP3 TIM3_HUMAN (P35625) 188826 VAR= 3 Disease TMPO THPA_HUMAN (P42166) 188380 VAR= 1 TNA TETN_HUMAN (P05452) 187520 VAR= 2 3D TNNT2 TRT2_HUMAN (P45379) 191045 VAR= 8 Disease TOP1 TOP1_HUMAN (P11387) 126420 VAR= 2 TOP2A TOP2 TP2A_HUMAN (P11388) 126430 VAR= 1 TOP3 TOP3_HUMAN (Q13472) 601243 VAR= 1 TP53 P53_HUMAN (P04637) 191170 VAR= 191 Disease 3D Xdb TPI1 TPI TPIS_HUMAN (P00938) 190450 VAR= 8 Disease 3D TPM1 TMSA TPM1_HUMAN (P09493) 191010 VAR= 2 Disease TPMT TPMT_HUMAN (P51580) 187680 VAR= 4 TPO PERT_HUMAN (P07202) 274500 VAR= 6 Disease TPP1 TTPA_HUMAN (P49638) 600415 VAR= 1 Disease TSC2 TSC2_HUMAN (P49815) 191092 VAR= 8 Disease Xdb TSHR TSHR_HUMAN (P16473) 275200 VAR= 9 Disease 3D TTR PALB TTHY_HUMAN (P02766) 176300 VAR= 48 Disease 3D TWIST TWST_HUMAN (Q15672) 601622 VAR= 4 Disease TYR TYRO_HUMAN (P14679) 203100 VAR= 38 Disease Xdb UGT1 GNT1 UD11_HUMAN (P22309) 191740 VAR= 14 Disease UGT1 GNT1 UD14_HUMAN (P22310) 191740 VAR= 2 Disease UMPS PYR5_HUMAN (P11172) 258900 VAR= 4 Disease UROD DCUP_HUMAN (P06132) 176090 VAR= 4 Disease UROS HEM4_HUMAN (P10746) 263700 VAR= 12 Disease VDAC2 POR2_HUMAN (P45880) 193245 VAR= 2 VDR VDR_HUMAN (P11473) 601769 VAR= 10 Disease VHL VHL_HUMAN (P40337) 193300 VAR= 84 Disease VLCAD ACDV_HUMAN (P49748) 201475 VAR= 11 Disease WAS IMD2 WASP_HUMAN (P42768) 301000 VAR= 17 Disease WT1 WT1_HUMAN (P19544) 194070 VAR= 14 Disease Xdb XPA XPAC XPA_HUMAN (P23025) 278700 VAR= 2 Disease XPB XPBC XPB_HUMAN (P19447) 133510 VAR= 1 Disease XPC XPCC XPC_HUMAN (Q01831) 278720 VAR= 3 Disease XPD XPDC XPD_HUMAN (P18074) 126340 VAR= 10 Disease XPF ERCC4 XPF_HUMAN (Q92889) 133520 VAR= 2 Disease XPG XPGC XPG_HUMAN (P28715) 133530 VAR= 3 Disease n.a. HV3M_HUMAN (P01774) VAR= 1 n.a. QPCT_HUMAN (Q16769) VAR= 1